What methods are used to diagnose patients?
The majority of patients are initially screened by enzyme assay, which is the most efficient method to arrive at a definitive diagnosis. In some families where the disease-causing mutation(s) is known and in certain genetic isolates, mutation analysis may be performed. In addition, after a diagnosis is made by biochemical means, mutation analysis may be performed for certain disorders. One such disorder is metachromatic leukodystrophy where testing for the so-called pseudodeficiency allele and the two most common disease-causing mutations may be performed. Also, patients found to have Krabbe disease may be tested for some common mutations, including the 30 kb deletion.
